SHMARQL

Nasu-Hakola disease

<http://www.wikidata.org/entity/Q3281284>

human disease
rdfs:label
"Nasu-Hakola disease"@en
skos:altLabel
"Brain-Bone-Fat Disease"@en
"Dementia, Prefrontal, With Bone Cysts"@en
"Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia"@en
"NHD"@en
"Nasu-Hakola Disease"@en
"PLO-SL"@en
"PLOSL"@en
"POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL"@en
"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"@en
"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"@en
"presenile dementia with bone cysts"@en
"progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-23T23:54:48+00:00"^^xsd:dateTime
schema:version 2560160226
wikibase:identifiers 13
wikibase:sitelinks 5
wikibase:statements 46
p:P11430 wd:statement/Q3281284-1818ace0-4fbe-32d2-e0a1-a1bf13fae73b
p:P1193 wd:statement/Q3281284-84DF82BC-E810-4F95-9D73-B931E37AC4C4
p:P1325 wd:statement/Q3281284-0F20EC7F-900B-4073-B8EC-8908D0537706
p:P14914 wd:statement/Q3281284-68A2847A-2810-4ADC-9E29-59FD102FE02F
p:P1550 wd:statement/Q3281284-6EC98A06-0198-42E4-BC85-65CC1A973B11
p:P1692 wd:statement/Q3281284-C86DE8CA-724F-4FF3-BB51-966C15DCF6EE
p:P2293 wd:statement/Q3281284-1AB6D80E-0007-45F6-B4A3-28B61A635E74
wd:statement/Q3281284-BFFC0CA2-677D-4F22-996B-C3063F74CBBA
p:P2347 wd:statement/Q3281284-C571EA52-8287-492E-9927-55F862DBA4AD
p:P279 wd:statement/Q3281284-2AC70C8D-E24F-401E-84A2-7768D88C10D9
wd:statement/Q3281284-445A5CEF-2179-4630-AE36-C3E16B0FB23D
wd:statement/Q3281284-4F3808E1-E5D9-41D1-944C-98980A42290C
wd:statement/Q3281284-B21C2AA6-CBEE-4030-AA98-7B0BFF0A9B25
p:P2841 wd:statement/Q3281284-743E106A-A438-4F3C-8E00-47E67229C9EE
wd:statement/Q3281284-74C9A4FB-127D-4702-8011-27F262A49F4B
p:P2888 wd:statement/Q3281284-3D9196AE-CA0A-4FF0-AB75-E7AB45912595
wd:statement/Q3281284-84EE8DF3-3206-42D7-A90E-5CD1EDCCC526
wd:statement/Q3281284-D1312CAE-AA26-4CB2-9C90-D9F4ADDC82A5
p:P2892 wd:statement/Q3281284-96B5A0C7-5772-49A3-ADAE-1A0ED46BED9D
p:P31 wd:statement/Q3281284-29416D00-A49E-4A5F-BCD6-A8808BCF68B1
wd:statement/Q3281284-539C9C71-6AF5-402F-9D92-4D7E67805E3C
wd:statement/Q3281284-608DDCF6-A3E3-4C0D-86F8-936658FCD076
p:P4229 wd:statement/Q3281284-8CA6D3A1-5997-4A64-8C3A-399ECC64CB61
p:P4317 wd:statement/Q3281284-652283E7-FA9D-46A8-95EF-E03975FAEDB1
p:P486 wd:statement/Q3281284-E90CEAA0-A5AE-41DC-81B4-903FF0415408
p:P492 wd:statement/Q3281284-092335BD-7396-4E3F-BF55-9011CC3C57D9
p:P5008 wd:statement/Q3281284-7D3EA778-FB84-4FE2-A22A-208FEBD87A26
p:P5270 wd:statement/Q3281284-AC1A3676-AF43-40CB-8755-042EE96E142E
p:P6532 wd:statement/Q3281284-238911CC-B113-4B02-BC44-8F01A41531BE
wd:statement/Q3281284-2518C371-EEE6-402C-ACAC-9ED013489264
wd:statement/Q3281284-2F024A28-0CAE-499E-B4F2-8FE0443C6386
wd:statement/Q3281284-408E93A2-AADA-4AFE-8711-76152F49CA1F
wd:statement/Q3281284-4D66EF25-0764-4186-A253-0488B3611E5A
wd:statement/Q3281284-718895E0-8D47-41CF-BDDA-6ABA175C0034
wd:statement/Q3281284-7A28E77B-EB3B-429A-9A66-52DD1217E81B
wd:statement/Q3281284-95E04134-EEC2-473B-87BC-E70B2B31D2F2
wd:statement/Q3281284-B9EA333F-28C9-4A6A-8CF9-649BEEE9CD73
wd:statement/Q3281284-BE23397C-B18C-4060-9630-83595B373638
wd:statement/Q3281284-BFE10C77-3DDA-4C6A-8478-B1720BA3CD9A
wd:statement/Q3281284-DCDB826A-B1AE-4650-8E49-8A085632B0AB
wd:statement/Q3281284-F44EE1E9-CC18-48A3-BEEB-CAED9917CD01
wd:statement/Q3281284-F4797B42-CB4C-4D9D-8982-BA2358EE1F4C
wd:statement/Q3281284-F8D4C68C-6040-45BA-B7A8-59E0839FE664
p:P665 wd:statement/Q3281284-C077DA3F-E7A3-43BD-A401-BB7A6ABC04BA
p:P699 wd:statement/Q3281284-3AF7628A-BE07-41FB-828D-0434BDB01BB4
p:P7464 wd:statement/Q3281284-1FEF128B-08B2-4B2A-A409-4B153EF155BD
p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p17662>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536329>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009092>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00438>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0090112>
wdt:P11430 "DI-02174"
wdt:P1193 0.000001^^xsd:decimal
wdt:P1325 <http://www.nanbyou.or.jp/entry/4256>
wdt:P14914 "D02770"
wdt:P1550 "2770"
wdt:P1692 "758.89"
wdt:P2293 TYROBP
TREM2
wdt:P2347 "17662"
wdt:P279 autosomal recessive disease
nervous system heredodegenerative disease
primary osteolysis
wdt:P2841 juvenile onset
adult onset
wdt:P2888 <http://identifiers.org/doid/DOID:0090112>
<http://purl.obolibrary.org/obo/DOID_0090112>
<http://www.orpha.net/ORDO/Orphanet_2770>
wdt:P2892 "C1857316"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P4229 "E75.2"
wdt:P4317 "9921"
wdt:P486 "C536329"
wdt:P492 "221770"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009092"
wdt:P6532 choreatic disease
spasticity
speech disorder
Frontal lobe dementia
developmental regression
Ventriculomegaly
agnosia
movement disorders
memory disorder
personality change
disinhibition
seizure
arthralgia
bone cyst
acute leukemia
wdt:P665 "H00438"
wdt:P699 "DOID:0090112"
wdt:P7464 "polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy"
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data from SPARQL profile: Wikidata